Incidental Mutation 'R8816:Zranb3'
| ID |
672711 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zranb3
|
| Ensembl Gene |
ENSMUSG00000036086 |
| Gene Name |
zinc finger, RAN-binding domain containing 3 |
| Synonyms |
4933425L19Rik |
| MMRRC Submission |
068726-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R8816 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
127881921-128030784 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 127964347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 127
(V127M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086614]
[ENSMUST00000112538]
|
| AlphaFold |
Q6NZP1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086614
AA Change: V127M
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000083806
Gene: ENSMUSG00000036086
AA Change: V127M
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
33 |
214 |
3.37e-19 |
SMART |
|
HELICc
|
352 |
435 |
3.79e-13 |
SMART |
|
ZnF_RBZ
|
619 |
643 |
6.93e-5 |
SMART |
|
HNHc
|
985 |
1036 |
5.64e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112538
AA Change: V127M
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108157
Gene: ENSMUSG00000036086
AA Change: V127M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF2_N
|
40 |
98 |
6.6e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,127,513 (GRCm39) |
H348L |
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,478,024 (GRCm39) |
Y74* |
probably null |
Het |
| Ass1 |
T |
C |
2: 31,383,189 (GRCm39) |
|
probably benign |
Het |
| Atp8b4 |
C |
T |
2: 126,214,084 (GRCm39) |
|
probably benign |
Het |
| Atrn |
C |
A |
2: 130,748,798 (GRCm39) |
N106K |
probably damaging |
Het |
| Atrn |
T |
C |
2: 130,846,494 (GRCm39) |
V1256A |
probably damaging |
Het |
| Bicdl1 |
T |
A |
5: 115,862,804 (GRCm39) |
Q150H |
probably damaging |
Het |
| Bltp3b |
T |
C |
10: 89,626,597 (GRCm39) |
|
probably benign |
Het |
| Cdhr4 |
T |
C |
9: 107,872,791 (GRCm39) |
V280A |
possibly damaging |
Het |
| Cfap54 |
C |
T |
10: 92,714,454 (GRCm39) |
V2642I |
unknown |
Het |
| Chd2 |
T |
C |
7: 73,140,245 (GRCm39) |
H661R |
probably damaging |
Het |
| Cntnap2 |
A |
G |
6: 46,833,076 (GRCm39) |
D763G |
possibly damaging |
Het |
| Csnk1g2 |
T |
C |
10: 80,474,093 (GRCm39) |
C160R |
probably damaging |
Het |
| Cyb5r4 |
T |
C |
9: 86,904,286 (GRCm39) |
S19P |
probably benign |
Het |
| Cyp4a30b |
G |
A |
4: 115,309,834 (GRCm39) |
V12M |
probably benign |
Het |
| Dpp6 |
C |
T |
5: 27,930,711 (GRCm39) |
P848S |
probably benign |
Het |
| Dzip1 |
T |
C |
14: 119,159,785 (GRCm39) |
Y141C |
probably benign |
Het |
| Eif2b3 |
C |
A |
4: 116,928,052 (GRCm39) |
Q424K |
probably benign |
Het |
| Fbxw14 |
G |
A |
9: 109,105,305 (GRCm39) |
R287* |
probably null |
Het |
| Fcgbp |
T |
G |
7: 27,784,412 (GRCm39) |
S157R |
probably benign |
Het |
| Fmnl2 |
T |
G |
2: 53,004,214 (GRCm39) |
V642G |
unknown |
Het |
| Gpr119 |
C |
T |
X: 47,762,276 (GRCm39) |
R287Q |
possibly damaging |
Het |
| Grm7 |
C |
T |
6: 111,230,966 (GRCm39) |
T463I |
possibly damaging |
Het |
| Haus4 |
G |
A |
14: 54,779,710 (GRCm39) |
R305C |
probably benign |
Het |
| Htr1f |
A |
G |
16: 64,746,537 (GRCm39) |
S252P |
probably benign |
Het |
| Ino80b |
T |
C |
6: 83,098,861 (GRCm39) |
Q359R |
probably damaging |
Het |
| Itgad |
C |
A |
7: 127,797,542 (GRCm39) |
Y924* |
probably null |
Het |
| Itpr2 |
A |
G |
6: 146,142,710 (GRCm39) |
Y1703H |
probably damaging |
Het |
| Kif5c |
T |
A |
2: 49,584,799 (GRCm39) |
V174E |
probably damaging |
Het |
| Kifc2 |
A |
G |
15: 76,548,371 (GRCm39) |
E405G |
probably damaging |
Het |
| Klk1b3 |
T |
C |
7: 43,851,668 (GRCm39) |
V242A |
possibly damaging |
Het |
| Kndc1 |
T |
C |
7: 139,517,909 (GRCm39) |
F1615S |
probably damaging |
Het |
| Lmtk2 |
T |
A |
5: 144,112,793 (GRCm39) |
L1171* |
probably null |
Het |
| Myh10 |
A |
G |
11: 68,693,778 (GRCm39) |
E1530G |
probably damaging |
Het |
| Nav3 |
T |
A |
10: 109,699,721 (GRCm39) |
S258C |
possibly damaging |
Het |
| Nudcd3 |
C |
T |
11: 6,100,587 (GRCm39) |
G186S |
probably damaging |
Het |
| Or9s15 |
T |
A |
1: 92,524,768 (GRCm39) |
C176S |
probably damaging |
Het |
| Otog |
C |
T |
7: 45,950,905 (GRCm39) |
S374F |
possibly damaging |
Het |
| P2ry2 |
T |
A |
7: 100,647,763 (GRCm39) |
I181F |
possibly damaging |
Het |
| Pde11a |
T |
C |
2: 76,121,577 (GRCm39) |
I335V |
probably benign |
Het |
| Phyhip |
A |
C |
14: 70,704,375 (GRCm39) |
D198A |
probably damaging |
Het |
| Pik3r5 |
A |
T |
11: 68,385,060 (GRCm39) |
Y655F |
probably damaging |
Het |
| Rab6a |
T |
C |
7: 100,279,145 (GRCm39) |
I95T |
possibly damaging |
Het |
| Sgsm1 |
T |
C |
5: 113,435,097 (GRCm39) |
E99G |
probably damaging |
Het |
| Skint10 |
A |
T |
4: 112,603,892 (GRCm39) |
F98L |
probably benign |
Het |
| Slc35c2 |
A |
G |
2: 165,119,378 (GRCm39) |
S321P |
probably benign |
Het |
| Smyd1 |
T |
A |
6: 71,192,868 (GRCm39) |
E447V |
probably damaging |
Het |
| Smyd4 |
T |
C |
11: 75,281,232 (GRCm39) |
V235A |
probably benign |
Het |
| Sod2 |
A |
G |
17: 13,227,253 (GRCm39) |
Y69C |
probably benign |
Het |
| Spns1 |
G |
A |
7: 125,971,593 (GRCm39) |
S319F |
possibly damaging |
Het |
| Tfap2b |
A |
G |
1: 19,284,337 (GRCm39) |
S82G |
probably benign |
Het |
| Tln2 |
C |
A |
9: 67,128,693 (GRCm39) |
E1465D |
possibly damaging |
Het |
| Tln2 |
A |
G |
9: 67,128,799 (GRCm39) |
I1430T |
probably damaging |
Het |
| Trio |
G |
T |
15: 27,741,357 (GRCm39) |
N2680K |
probably damaging |
Het |
| Trmt10c |
A |
T |
16: 55,854,522 (GRCm39) |
V371D |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,965,580 (GRCm39) |
S1692P |
probably damaging |
Het |
| Usb1 |
G |
T |
8: 96,071,984 (GRCm39) |
C228F |
probably benign |
Het |
| Veph1 |
G |
T |
3: 66,065,646 (GRCm39) |
H474N |
probably benign |
Het |
| Wls |
A |
G |
3: 159,639,928 (GRCm39) |
T520A |
possibly damaging |
Het |
| Ywhae |
T |
C |
11: 75,623,878 (GRCm39) |
Y9H |
probably damaging |
Het |
|
| Other mutations in Zranb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00565:Zranb3
|
APN |
1 |
127,943,877 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00818:Zranb3
|
APN |
1 |
127,960,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01360:Zranb3
|
APN |
1 |
127,887,622 (GRCm39) |
nonsense |
probably null |
|
|
IGL01704:Zranb3
|
APN |
1 |
127,895,676 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02131:Zranb3
|
APN |
1 |
127,920,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02466:Zranb3
|
APN |
1 |
127,943,829 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02825:Zranb3
|
APN |
1 |
127,887,489 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02836:Zranb3
|
APN |
1 |
127,888,562 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0088:Zranb3
|
UTSW |
1 |
127,904,199 (GRCm39) |
missense |
probably benign |
|
|
R0279:Zranb3
|
UTSW |
1 |
127,891,510 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0423:Zranb3
|
UTSW |
1 |
128,019,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0499:Zranb3
|
UTSW |
1 |
127,882,817 (GRCm39) |
splice site |
probably null |
|
|
R0562:Zranb3
|
UTSW |
1 |
127,964,295 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0972:Zranb3
|
UTSW |
1 |
127,884,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1480:Zranb3
|
UTSW |
1 |
128,019,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1552:Zranb3
|
UTSW |
1 |
127,888,488 (GRCm39) |
splice site |
probably benign |
|
|
R1704:Zranb3
|
UTSW |
1 |
128,019,740 (GRCm39) |
start codon destroyed |
probably null |
0.22 |
|
R1817:Zranb3
|
UTSW |
1 |
127,945,293 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1818:Zranb3
|
UTSW |
1 |
127,945,293 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1819:Zranb3
|
UTSW |
1 |
127,945,293 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1951:Zranb3
|
UTSW |
1 |
127,927,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1953:Zranb3
|
UTSW |
1 |
127,927,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1988:Zranb3
|
UTSW |
1 |
127,887,480 (GRCm39) |
missense |
probably benign |
|
|
R2011:Zranb3
|
UTSW |
1 |
128,019,638 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3159:Zranb3
|
UTSW |
1 |
127,900,686 (GRCm39) |
missense |
probably benign |
|
|
R4179:Zranb3
|
UTSW |
1 |
127,888,601 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4281:Zranb3
|
UTSW |
1 |
127,891,614 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4400:Zranb3
|
UTSW |
1 |
127,884,392 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5236:Zranb3
|
UTSW |
1 |
127,968,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5330:Zranb3
|
UTSW |
1 |
127,887,457 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5719:Zranb3
|
UTSW |
1 |
127,891,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6125:Zranb3
|
UTSW |
1 |
127,887,482 (GRCm39) |
missense |
probably benign |
|
|
R6220:Zranb3
|
UTSW |
1 |
127,927,141 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6414:Zranb3
|
UTSW |
1 |
127,968,694 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6751:Zranb3
|
UTSW |
1 |
127,887,556 (GRCm39) |
missense |
probably benign |
|
|
R7229:Zranb3
|
UTSW |
1 |
127,968,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7419:Zranb3
|
UTSW |
1 |
127,891,588 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7537:Zranb3
|
UTSW |
1 |
127,960,584 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7771:Zranb3
|
UTSW |
1 |
127,960,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7980:Zranb3
|
UTSW |
1 |
128,030,671 (GRCm39) |
unclassified |
probably benign |
|
|
R8152:Zranb3
|
UTSW |
1 |
127,882,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8370:Zranb3
|
UTSW |
1 |
127,895,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8458:Zranb3
|
UTSW |
1 |
127,920,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8969:Zranb3
|
UTSW |
1 |
127,888,588 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9369:Zranb3
|
UTSW |
1 |
127,887,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9468:Zranb3
|
UTSW |
1 |
127,891,496 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Zranb3
|
UTSW |
1 |
127,964,218 (GRCm39) |
missense |
probably benign |
0.25 |
|
Z1176:Zranb3
|
UTSW |
1 |
127,892,885 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAAGAAGAATGGCTCTCCTGG -3'
(R):5'- CAGAATTCTGAGTCCTGGCTTAAC -3'
Sequencing Primer
(F):5'- AAGAATGGCTCTCCTGGCCTTC -3'
(R):5'- CTGAGTCCTGGCTTAACATATTTGAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation